Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.298
Filtrar
2.
Arch Endocrinol Metab ; 63(4): 438-444, 2019 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-31460623

RESUMO

Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4):438-44.


Assuntos
Puberdade Precoce/genética , Proteínas de Ligação ao Cálcio , Inativação Gênica , Humanos , Peptídeos e Proteínas de Sinalização Intercelular/genética , Peptídeos e Proteínas de Sinalização Intercelular/metabolismo , Kisspeptinas/genética , Proteínas de Membrana/genética , Proteínas de Membrana/metabolismo , Metilação , Mutação , Fenótipo , Puberdade Precoce/etiologia , Receptores de Kisspeptina-1/genética , Ribonucleoproteínas/genética
4.
Artigo em Inglês | MEDLINE | ID: mdl-31343141

RESUMO

We present a rare occurrence of precocious puberty (PP) probably due to an autonomous ovarian cyst in a 15-month-old girl who presented to us with growth spurt, breast and pubic hair development, and vaginal bleeding over the last few months. The clinical presentation was suggestive of central precocious puberty (CPP). However, the rapid progression of pubertal changes and occurrence of menarche at breast Tanner stage 2 indicated peripheral precocious puberty (PPP). Due to uncertainty of clinical diagnosis, investigations were conducted for CPP as well as PPP. The basal and peak stimulated LH concentrations were < 0.3 IU/l and < 2 IU/l, respectively, indicating PPP. However, the peak LH : FSH ratio was > 1, which is consistent with CPP. Abdominal imaging revealed an ovarian mass, which was laparoscopically excised, but the true nature of the mass could not be ascertained because the excised specimen showed only haemorrhage and features of ovarian torsion on histopathological examination. Regression of pubertal development occurred over a three-month period postoperatively.


Assuntos
Cistos Ovarianos/complicações , Puberdade Precoce/etiologia , Feminino , Humanos , Índia , Lactente , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/cirurgia , Puberdade Precoce/diagnóstico
5.
Horm Res Paediatr ; 91(5): 293-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31302655

RESUMO

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.


Assuntos
Acromegalia/diagnóstico , Transtornos do Crescimento/diagnóstico , Puberdade Precoce/diagnóstico , Acromegalia/etiologia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Puberdade Precoce/etiologia
6.
BMJ Case Rep ; 12(5)2019 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31079043

RESUMO

Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring. Maternal UPD of the chromosome 14 (UPD(14)mat, Temple syndrome) is a rare disorder with heterogeneous clinical presentation. Here, we report a case of UPD(14)mat with a small supernumerary marker chromosome in a 6-year-old baby girl, presenting endocrinological disorders and incomplete clinical presentation. She came to our attention because of precocious beginning of pubarche and normal stature. Most of Temple syndrome signs were lacking. Provocative tests diagnosed incomplete growth hormone (GH) response and confirmed precocious puberty. One year treatment with recombinant human GH and gonadotropin-releasing hormone (GnRH) agonists proved successful, increasing height and arresting puberty. We recommend provocative tests for GH in UPD(14)mat as a GH deficiency can be hidden by a concurrent precocious puberty. Concomitant human GH and GnRH analogue treatment can be pursued.


Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Puberdade Precoce/tratamento farmacológico , Pamoato de Triptorrelina/uso terapêutico , Dissomia Uniparental/genética , Criança , Cromossomos Humanos Par 14/genética , Feminino , Humanos , Puberdade Precoce/etiologia
7.
J Pediatr Endocrinol Metab ; 32(6): 577-583, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31141486

RESUMO

Background Delayed puberty and hypogonadism are common in children with chronic kidney disease and in renal transplant recipients, but precocious puberty has rarely been reported in these populations. We describe six girls with precocious and/or early-onset, rapidly progressive puberty before and following renal transplantation. Methods Of 112 children under the age of 18 years (67 boys, 45 girls) who received renal transplants between 2010 and 2018, six girls presented with precocious or rapidly progressive early puberty at ages 6-7/12, 7-2/12, 7-4/12, 8, 8-8/12 and 8-11/12 years. Clinical evaluation included measurements of height, weight, body mass index (BMI), Tanner staging and bone age assessment. Gonadotropin responses to intravenous gonadotropin releasing hormone (GnRH) or intramuscular triptorelin acetate were determined. Results Tanner breast stage 3 was noted at 2-6 years following renal transplantation in five girls, four with preserved kidney function. One girl began puberty before renal transplantation. Peak luteinizing hormone (LH) and follicular stimulating hormone (FSH) levels were 6.5, 20.2, 7.83, 19.1, 9 and 2.2 mIU/mL and 13, 8.3, 8.01, 7.5, 8.1 and 7.7 mIU/mL, respectively. Treatment with an intramuscular slow-release formulation of triptorelin acetate every 4 weeks slowed progression of breast development. Conclusions Although delayed puberty is more common in children with renal disease, precocious puberty can also be seen. Evaluation of growth and puberty by a pediatric endocrinologist should be part of the routine care for all children following kidney transplantation.


Assuntos
Biomarcadores/análise , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias , Puberdade Precoce/etiologia , Maturidade Sexual , Estatura , Peso Corporal , Criança , Estradiol/sangue , Feminino , Humanos , Hormônio Luteinizante/sangue , Prognóstico , Puberdade Precoce/sangue , Puberdade Precoce/diagnóstico
8.
Best Pract Res Clin Endocrinol Metab ; 33(3): 101273, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31027974

RESUMO

Peripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty. Causes are variable and can be congenital or acquired. In this review, we will discuss the diagnosis and management of the most common etiologies including congenital adrenal hyperplasia, McCune Albright syndrome, familial male-limited precocious puberty, and adrenal and gonadal tumors.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Puberdade Precoce/etiologia , Neoplasias das Glândulas Suprarrenais/complicações , Feminino , Displasia Fibrosa Poliostótica/complicações , Humanos , Masculino , Puberdade Precoce/complicações , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapia
10.
Eur J Endocrinol ; 180(5): 281-290, 2019 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-30884465

RESUMO

Objectives Childhood traumatic brain injury (TBI) is a public health issue. Our objectives were to determine the prevalence of permanent pituitary hormone deficiency and to detect the emergence of other pituitary dysfunctions or central precocious puberty several years after severe TBI. Design Follow-up at least 5 years post severe TBI of a prospective longitudinal study. Patients Overall, 66/87 children, who had endocrine evaluation 1 year post severe TBI, were included (24 with pituitary dysfunction 1 year post TBI). Main outcome measures In all children, the pituitary hormones basal levels were assessed at least 5 years post TBI. Growth hormone (GH) stimulation tests were performed 3-4 years post TBI in children with GH deficiency (GHD) 1 year post TBI and in all children with low height velocity (<-1 DS) or low IGF-1 (<-2 DS). Central precocious puberty (CPP) was confirmed by GnRH stimulation test. Results Overall, 61/66 children were followed up 7 (5-10) years post TBI (median; (range)); 17/61 children had GHD 1 year post TBI, and GHD was confirmed in 5/17 patients. For one boy, with normal pituitary function 1 year post TBI, GHD was diagnosed 6.5 years post TBI. 4/61 patients developed CPP, 5.7 (2.4-6.1) years post-TBI. Having a pituitary dysfunction 1 year post TBI was significantly associated with pituitary dysfunction or CPP more than 5 years post TBI. Conclusion Severe TBI in childhood can lead to permanent pituitary dysfunction; GHD and CPP may appear after many years. We recommend systematic hormonal assessment in children 1 year after severe TBI and a prolonged monitoring of growth and pubertal maturation. Recommendations should be elaborated for the families and treating physicians.


Assuntos
Lesões Encefálicas Traumáticas/complicações , Hipopituitarismo/etiologia , Puberdade Precoce/etiologia , Adolescente , Hormônio Adrenocorticotrópico/sangue , Lesões Encefálicas Traumáticas/sangue , Criança , Pré-Escolar , Feminino , Seguimentos , Hormônio do Crescimento Humano/sangue , Humanos , Hipopituitarismo/sangue , Lactente , Masculino , Estudos Prospectivos , Puberdade Precoce/sangue , Tireotropina/sangue
12.
J Pediatr ; 206: 105-112, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30528762

RESUMO

OBJECTIVE: To examine the associations of in utero exposure to maternal diabetes with surrogate measures of offspring pubertal timing (age at peak height velocity [APHV]) and speed of pubertal growth (peak height velocity [PHV]). STUDY DESIGN: Data from 77 exposed and 340 unexposed youth followed from age 2 to 19 years (51% non-Hispanic white, 50% female) were analyzed using the Exploring Perinatal Outcomes among Children study, a historical prospective cohort. Maternal diabetes status was collected from obstetric records, and child heights from 2 years to current age from pediatric records. Other covariates were collected during research visits. The superimposition by translation and rotation method, using height measurements (4-52 per participant), modeled APHV and PHV. Accelerated failure time analyses were used to test whether exposure to maternal diabetes was associated with younger APHV and faster PHV. RESULTS: Adjusting for child's sex, race/ethnicity, and socioeconomic status, median APHV was reached ~3 months earlier in youth exposed to maternal diabetes compared with unexposed youth (P < .03). Youth exposed to maternal diabetes had a faster PHV than unexposed youth: exposed girls had 10.5% greater median PHV compared with unexposed girls and exposed boys had a 4.0% greater median PHV compared with unexposed boys (P < .001 for exposure by sex interaction). CONCLUSIONS: Our findings provide evidence that exposure to maternal diabetes in utero is associated with earlier pubertal timing and faster pubertal growth. Whether earlier puberty or faster speed of pubertal growth mediates the association between maternal diabetes exposure and later chronic disease risk remains to be studied.


Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Gestacional/fisiopatologia , Gravidez em Diabéticas/fisiopatologia , Efeitos Tardios da Exposição Pré-Natal , Puberdade Precoce/etiologia , Adolescente , Antropometria , Estatura , Índice de Massa Corporal , Criança , Pré-Escolar , Colorado/epidemiologia , Diabetes Mellitus Tipo 1/complicações , Feminino , Humanos , Masculino , Menarca , Gravidez , Estudos Prospectivos , Puberdade , Maturidade Sexual , Classe Social , Adulto Jovem
13.
Biol Psychiatry ; 85(3): 268-278, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30391001

RESUMO

BACKGROUND: Recent conceptual models argue that early life adversity (ELA) accelerates development, which may contribute to poor mental and physical health outcomes. Evidence for accelerated development in youths comes from studies of telomere shortening or advanced pubertal development following circumscribed ELA experiences and neuroimaging studies of circuits involved in emotional processing. It is unclear whether all ELA is associated with accelerated development across global metrics of biological aging or whether this pattern emerges following specific adversity types. METHODS: In 247 children and adolescents 8 to 16 years of age with wide variability in ELA exposure, we evaluated the hypothesis that early environments characterized by threat, but not deprivation, would be associated with accelerated development across two global biological aging metrics: DNA methylation (DNAm) age and pubertal stage relative to chronological age. We also examined whether accelerated development explained associations of ELA with depressive symptoms and externalizing problems. RESULTS: Exposure to threat-related ELA (e.g., violence) was associated with accelerated DNAm age and advanced pubertal stage, but exposure to deprivation (e.g., neglect, food insecurity) was not. In models including both ELA types, threat-related ELA was uniquely associated with accelerated DNAm age (ß = .18) and advanced pubertal stage (ß = .28), whereas deprivation was uniquely associated with delayed pubertal stage (ß = -.21). Older DNAm age was related to greater depressive symptoms, and a significant indirect effect of threat exposure on depressive symptoms was observed through DNAm age. CONCLUSIONS: Early threat-related experiences are particularly associated with accelerated biological aging in youths, which may be a mechanism linking ELA with depressive symptoms.


Assuntos
Experiências Adversas da Infância , Envelhecimento/metabolismo , Adolescente , Criança , Metilação de DNA , Depressão/etiologia , Feminino , Humanos , Controle Interno-Externo , Masculino , Puberdade Precoce/etiologia
15.
Pediatr Diabetes ; 20(2): 197-201, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30575242

RESUMO

BACKGROUND: Recent studies have suggested that there is an earlier age of onset of puberty in healthy boys. However, no study has determined the age of pubertal development in boys with type 1 diabetes (T1D) and compared the results with a simultaneously recruited group of healthy children. OBJECTIVE: The aim of this study was to evaluate the age of pubertal events in boys with TD1 and determine whether the duration of diabetes, metabolic control or insulin dose are associated with the age of puberty in boys with T1D. METHODS: Boys aged 7 to 19 years with T1D (n = 148, age 12.9 ± 3.0 years) and healthy boys recruited from schools (n = 388 controls, age 12.8 ± 2.2 years) were studied. A pediatric endocrinologist evaluated pubertal development. RESULTS: Boys at genital Tanner stage 2 and the final stages of puberty (genital Tanner 4 and 5) were younger than the control group (P = 0.005, P = 0.003, and P = 0.015, respectively). Both groups of boys had a similar age of pubic Tanner stage development. There were no cases of pubertal delay observed in the T1D cohort. There was no association observed between metabolic control with pubertal timing. T1D adolescents had lower height-SDS than the C group at the final stages of puberty. CONCLUSIONS: Boys with T1D who are treated with modern insulin therapy appear to have an earlier age of onset and an earlier age of final pubertal events than a simultaneously studied group of healthy children. These data suggest that pubertal delay is not a frequent problem for male T1D patients.


Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/fisiopatologia , Puberdade Precoce/epidemiologia , Puberdade/fisiologia , Adolescente , Desenvolvimento do Adolescente/fisiologia , Idade de Início , Estatura/fisiologia , Estudos de Casos e Controles , Criança , Chile/epidemiologia , Estudos Transversais , Humanos , Masculino , Puberdade Precoce/etiologia , Maturidade Sexual/fisiologia , Adulto Jovem
16.
Rev. chil. endocrinol. diabetes ; 12(1): 11-15, 2019. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-982011

RESUMO

Clinical case: a girl of 7 ½ years who consulted for early pubarche without thelark, with a percentile size of 75 for a genetic target size in the 10th percentile, overweight with a 90th percentile BMI, and normal blood pressure. The biochemical study showed high levels of androgens: testosterone: 7.2 ng/dL, androstenedione of 5.1 ng / ml, 17OHP: 15 ng / dL with low normal DHEAS (0.26 ug/ml), Plasma Renin Activity normal low: 0.22 ng/mL/h. Initial imaging study showed a bone age of 10 years 6 months and normal abdominal and pelvic ultrasound. Molecular study showed no pathogenic variants in the CYP21A2 gene (21 Hydroxylase). With a probable diagnosis of non-classical congenital adrenal hyperplasia (HSRNC) and no known mutation, he started treatment with hydrocortisone (12 mg/m2). At 8.7 years, pubertal development begins and braking begins with LHRH analogues, which are administered for 18 months. Despite the treatment, signs of virilization and elevation of androgens (testosterone up to 130 ng/ml) are progressively accentuated, which do not diminish when trying different corticosteroid schemes. MRI of the abdomen and pelvis shows the normal adrenal glands and a solid nodular image of 2.1 x 1.6 cm in the right ovary (Figure 2), later demonstrated with pelvic ultrasound (Figure 2). Right laparoscopic oophorectomy was performed, whose biopsy demonstrated a Leydig cell tumor. One month after surgery, all androgenic levels were normalized, so the gradual suspension of corticosteroids began. Conclusion: Although HSRNC is the most frequent pathological cause of early pubarche, when it is associated with progressive clinical and biochemical hyperandrogenism despite adequate treatment and without pathogenic variants in the CYP21A2 gene, even with high levels of 17OHP, other causes should be considered, specifically, androgen producing tumors.


Caso clínico: niña de 7½ años que consulta por pubarquia precoz sin telarquia, con talla en percentil 75 para una talla objetivo genético en percentil 10, sobrepeso con IMC percentil 90 y presión arterial normal. El estudio bioquímico mostró niveles elevados de andrógenos: testosterona: 7,2 ng/dL, androstenediona de 5,1 ng/ml, 17OHP: 15 ng/dL con DHEAS normal baja (0,26 ug/ml), Actividad de Renina Plasmática normal baja: 0.22 ng/ mL/h. Estudio de imágenes inicial mostró una edad ósea de 10 años 6 meses y ecografía abdominal y pelviana normales. Estudio molecular no mostró variantes patogénicas en el gen CYP21A2 (21 Hidroxilasa). Con diagnosticó probable de hiperplasia suprarrenal congénita no clásica (HSRNC) y sin mutación conocida,inició el tratamiento con hidrocortisona (12 mg/m2). A los 8.7 años comienza desarrollo puberal y se inicia frenación con análogos de LHRH, los cuales se administran por 18 meses. A pesar del tratamiento se acentúan progresivamente los signos de virilización y hayelevación de los andrógenos (testosterona hasta 130 ng/ml), que no disminuyen intentando diferentes esquemas de corticoides. Se realiza RM de abdomen y pelvis que muestra las glándulas suprarrenales normales y una imagen nodular sólida de 2.1 x 1.6 cm en el ovario derecho (Figura 2), demostrada posteriormente con Ecografía pelviana (Figura 2). Se realiza ooforectomía derecha por vía laparoscópica, cuya biopsia demostró un tumor de células de Leydig. Un mes después de la cirugía, se normalizan todos los niveles androgénicos por lo que se inició la suspensión gradual de los corticoides. Conclusión: Aunque la HSRNC es la causa patológica más frecuente de la pubarquia precoz, cuando se asocia con un hiperandrogenismo clínico y bioquímico progresivo a pesar de un tratamiento adecuado y sin variantes patógenicas en el gen CYP21A2, incluso con niveles elevados de 17OHP, otras causas deben ser consideradas, específicamente tumores productores de andrógenos.


Assuntos
Humanos , Feminino , Criança , Neoplasias Ovarianas/complicações , Neoplasias Ovarianas/diagnóstico , Puberdade Precoce/etiologia , Tumor de Células de Leydig/complicações , Tumor de Células de Leydig/diagnóstico , Testosterona/análise , Hiperandrogenismo/etiologia , Hiperplasia Suprarrenal Congênita/diagnóstico , 17-alfa-Hidroxiprogesterona/análise , Hirsutismo/etiologia , Androgênios/análise , Androstenodiona/análise
17.
BMJ Case Rep ; 11(1)2018 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-30567196

RESUMO

Möbius syndrome is a neurological disorder involving underdevelopment of the sixth and seventh cranial nerves. Multiple associations have been described including dysfunction of other cranial nerves, limb abnormalities and hypogonadotrophic hypogonadism causing delayed puberty. We present the second reported case of Möbius syndrome associated with obesity and with precocious puberty. These features may be secondary to dysregulation of the hypothalamic-pituitary axis. We highlight the need to consider extraocular symptoms in these patients and for close liaison with physicians in their management.


Assuntos
Síndrome de Möbius/complicações , Obesidade Pediátrica/etiologia , Puberdade Precoce/etiologia , Criança , Diagnóstico Diferencial , Feminino , Humanos , Sistema Hipotálamo-Hipofisário/fisiopatologia , Síndrome de Möbius/diagnóstico , Síndrome de Möbius/fisiopatologia
18.
Rev. chil. endocrinol. diabetes ; 11(4): 134-140, dic. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-968555

RESUMO

Introduction: Puberty normally begins after 8 years in girls and 9 years in boys. Objective: To determine the prevalence of signs of precocious puberty (PP), breast development in girls, premature gonadal development (PGD), premature adrenarche (PA), menarche age (MA) and its association with nutritional status (NS). Material and Methods: From a sample of 3.010 children from 5 to 14 years randomly selected in Santiago of Chile were chosen a subsample of 873 kids according to the cutoff to define PP. Survey was applied to obtain MA. Logistic regression were used to evaluate the relationship between PP and NS. Results: In boys the prevalence of PGD and PP was 8.55% and 3.16% respectively, no relationship was found with nutritional status In girls the prevalence of breast development and PA was 8.13% and 0.9% respectively. Only there be association between PP and NS in women: with a prevalence of 1,2%, 13,9% and 21,1% in well-nourished, Overweight and obesity are at greater risk of showing PP compared with eutrophic girls with an OR of 25,5 (IC 95% 3,2-203,0) and 46.93 (IC 95% 6,1-361,5). MA was 12,01 ± 0,94 years in eutrophic girls and 11,40 ± 0,96years in obese girls (p< 0,05). Conclusion: There was a positive correlation in females between overweight and obesity an PP and MA. There is a secular trend in MA, to compare these findings with other national studies. Obesity could have an important role in explaining the advancement observed in pubertal development.


Introducción: El desarrollo puberal se inicia normalmente después de los 8 años en niñas y de los 9 años en varones. Objetivo: Estimar la prevalencia de signos de pubertad precoz (sPP): crecimiento genital (CG) en varones, telarquia en niñas y vello púbico (VP) en ambos sexos; y determinar edad de la menarquia (EM) en una muestra de escolares de Santiago de Chile), y evaluar la asociación de estas variables con el estado nutricional (EN). Material y Métodos: Se examinaron 3.010 escolares de clase media baja de 6 a 14 años, pertenecientes a 10 colegios de Santiago de Chile y seleccionados aleatoriamente. En todos ellos se consignó peso, talla, IMC y desarrollo puberal según Tanner. Se aplicó una encuesta a los padres para obtener la EM a la población total de mujeres (n= 1.433). Para determinar sPP se analizaron por separado los 867 niños (62% mujeres) menores a la edad establecida como puntos de corte para definir PP. Se utilizó regresión logística para determinar la asociación existente entre sPP y el EN. Resultados: En varones la prevalencia de CG y VP fue de 8,55% y 3,16% y no se asocio al EN. La prevalencia de telarquia y VP en niñas fue de 8,13% y 0,9% respectivamente. Se observó una fuerte asociación entre telarquia y EN con prevalencias de 1.2%, 13.9% y 21.1% en eutróficas, sobrepeso y obesas, respectivamente (p< 0,0001) (Gráfico 1). La presencia de sobrepeso y/o obesidad otorgan un mayor riesgo de presentar telarquia, vs comparación con las niñas eutróficas con un OR de 25,5 (IC 95% 3,2-203,0) y 46.93 (IC 95% 6,1-361,5), respectivamente. La EM fue 12,01 ± 0,94 años en niñas eutróficas siendo de 11,40 ± 0,96 años en niñas obesas (p< 0,05). Conclusión: Se observó una correlación positiva solo en el sexo femenino entre malnutrición por exceso, telarquia precoz y EM. Se observa una tendencia secular en la EM al comparar los hallazgos con otros estudios nacionales.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Puberdade Precoce/epidemiologia , Menarca/fisiologia , Estado Nutricional , Sobrepeso/epidemiologia , Obesidade/epidemiologia , Puberdade Precoce/etiologia , Modelos Logísticos , Chile , Fatores Sexuais , Antropometria , Risco , Prevalência , Genitália/crescimento & desenvolvimento
19.
Hormones (Athens) ; 17(4): 581-588, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30460459

RESUMO

Central precocious puberty (CPP) or early puberty (EP) is a rare entity in combined pituitary hormone deficiency (CPHD), the latter caused by mutations in pituitary transcription factor genes. The early onset of puberty in two patients with CPHD with POU1F1 gene mutation was evaluated. A 3-month-old boy was diagnosed with central hypothyroidism, and L-thyroxine was commenced. He was referred for the evaluation of short stature at 20 months of age. Anthropometric evaluation revealed severe short stature (- 6.1 SDS), and growth hormone (GH) and prolactin deficiencies were diagnosed. Homozygous POU1F1 gene mutation (c.731T>G, p. I244S) was also detected. Testicular enlargement and high luteinizing hormone (LH) levels were observed at 7 years and 9 months of age while he was on GH and L-thyroxine treatment. Due to rapid progression of puberty, gonadotropin-releasing hormone analogue (GnRHa) was initiated at 11.3 years of age. This patient recently turned 19.2 years old, and his final height was - 2.3 SDS. The second patient, a 6-month-old boy, was also referred for growth retardation. His height was - 2.7 SDS, and GH and thyroid-stimulating hormone (TSH) deficiencies were diagnosed. He also had homozygous (c.10C>T, p.Q4*) POU1F1 gene mutation. Onset of puberty was relatively early, at 10 years, with advanced bone age. He was on GnRHa treatment between 11.5 and 12.5 years of age. Recent evaluation of the patient was at 13.6 years of age, and he is still on levothyroxine and GH treatment. The relationship between the POU1F1 genotype and CPP or EP has not as yet been firmly established in humans. Animal studies have revealed that the Pou1f1 gene has a major effect on regulation of GnRH receptor function and the Gata2 gene. It has also been demonstrated that this gene controls gonadotrope evolution and prevents excess gonadotropin levels. Further studies are, however, needed to elucidate the relation between POU1F1 function and CPP.


Assuntos
Hipopituitarismo/complicações , Puberdade Precoce/etiologia , Fator de Transcrição Pit-1/genética , Adolescente , Animais , Humanos , Masculino , Puberdade Precoce/tratamento farmacológico , Adulto Jovem
20.
An. pediatr. (2003. Ed. impr.) ; 89(4): 238-245, oct. 2018. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-177104

RESUMO

Introducción: La pubarquia precoz (PP) es generalmente considerada como una enfermedad benigna, pero puede ser el primer signo de una enfermedad subyacente. Objetivo: Analizar la etiología y la evolución de parámetros antropométricos, analíticos y de riesgo metabólico, en pacientes con PP. Material y métodos: Estudio retrospectivo, descriptivo y analítico, de 92 pacientes afectos de PP. Se evaluaron medidas antropométricas y analíticas, la edad ósea y marcadores de metabolismo lipídico. Resultados: Muestra de 92 pacientes (67 mujeres y 25 varones) con PP, con una edad media de 7,1 ± 0,6 años las mujeres y 8,3 ± 0,7 los varones. El 7,7% fueron pequeños para la edad gestacional. La edad ósea estaba adelantada (1,2 ± 0,1 años). Veintiún pacientes fueron clasificados como PP idiopática (23%), 60 como adrenarquia precoz idiopática (65%) y 11 como hiperplasia suprarrenal congénita no clásica (12%). La pubertad se mostró adelantada respecto a la media (11 ± 0,9 años en varones versus 9,9 ± 0,8 años en mujeres), así como la edad de la menarquia (11,8 ± 1,1 años), p < 0,001. La talla final alcanzada es próxima a la talla genética. Existe una correlación positiva entre el Z-score del índice de masa corporal, la glucemia y el colesterol LDL, así como una tendencia a la hiperinsulinemia. Conclusiones: El presente estudio demuestra como la PP en la mayoría de los casos supone una patología benigna, no siendo infrecuente la hiperplasia suprarrenal congénita no clásica (12%). Estos pacientes presentaron un adelanto puberal, de la edad ósea y de la menarquia. El crecimiento fue adecuado, alcanzando prácticamente su talla genética. La PP asociada a obesidad presenta alteraciones analíticas de riesgo metabólico


Introduction: Premature pubarche (PP) is generally thought to be a benign condition, but it can also be the first sign of underlying disease. Objective: To analyse the aetiology and the evolution of the anthropometric, analytical and metabolic risk parameters of a group of patients with PP. Material and methods: A descriptive and analytical retrospective study of 92 patients affected by PP. Anthropometry, analyses, bone age and indicators of lipid metabolism were all evaluated. Results: The sample included 92 patients with PP (67 female and 25 male), with a mean age of 7.1 ± 0.6 for girls and 8.3 ± 0.7 for boys. Small for gestational age was recorded in 7.7%. There was an accelerated bone age (1.20 ± 0.1 years). A total of 21 patients were classified as idiopathic (23%), 60 as idiopathic premature adrenarche (65%), and 11 with non-classic congenital adrenal hyperplasia (12%). Puberty was reached early (11 + 0.9 years old in boys and 9.9 ± 0.8 in girls), as was menstruation age (11.8 + 1.1 years old), P < .001. The stature finally reached was close to their genetic stature. There is a positive correlation between body mass index, blood glucose and LDL cholesterol, as well as a tendency towards hyperinsulinaemia. Conclusions: The present study shows that PP is a benign condition in the majority of cases, but non-classic congenital adrenal hyperplasia (12%) is not uncommon. Menstruation and puberty started early and bone age was accelerated. Growth was normal, and more or less in line with genetic size. PP associated with obesity is linked with analytical variations of metabolic risks


Assuntos
Humanos , Masculino , Feminino , Criança , Puberdade Precoce/complicações , Puberdade Precoce/etiologia , Adrenarca , Estudos Retrospectivos , Progressão da Doença , Estudo Observacional , Hiperplasia Suprarrenal Congênita
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA